@misc{10481/88539, year = {2023}, month = {1}, url = {https://hdl.handle.net/10481/88539}, abstract = {As the importance of understanding genomic variations in repetitive sequences grows, the lack of validation techniques for Next-Generation Sequencing data remains a challenge, particularly for Single-Nucleotide Variations (SNVs). We introduce chemFISH, a dynamic chemistry-based method utilizing abasic Peptide Nucleic Acid (PNA) probes to detect α-satellite DNA with single-base resolution. This innovative approach offers rapid validation of SNVs and potential for novel nucleic acid detection assays.}, organization = {This research was supported by the Spanish Ministry of Economy and Competitiveness (grant number BIO2016-80519-R, PID2019.110987RB.I00); the Andalusian Regional Government-FEDER (PT18-TP-4160, B-FQM-475-UGR18, A-FQM-760-UGR20); the European Union’s Horizon 2020 research and innovation program under the Marie Skłodowska-Curie actions (MSCA-RISE-101007934). The authors are members of the NANOCARE network (RED2018-102469-T) funded by the State Investigation Agency. ARR thanks the Spanish Ministry of Education for PhD funding (scholarship FPU15/06418) and the University of Granada for postdoctoral research. FJ López-Delgado thanks the Spanish Ministry of Economy and Competitiveness for the Torres Quevedo fellowship (PTQ-16-08597). These studies were approved and supported by DESTINA Genomics Ltd. Schemes in Graphical abstract and Fig. 1 have been partially created using BioRender.com. We thank Raquel Marrero-Díaz for her valuable support in the microscopy analyses.}, publisher = {Elsevier}, title = {Direct detection of alpha satellite - DNA with single-base resolution by using abasic Peptide Nucleic Acids and Fluorescent in situ Hybridization}, doi = {https://doi.org/10.1016/j.bios.2022.114770}, author = {Sánchez Martín, Rosario María}, }